Tyrosinemia Type I
What is Tyrosinemia Type I?
Tyrosinemia Type I is a genetic disease that happens when a person’s body does not have the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme helps break down tyrosine, a building block of proteins. When this enzyme is absent, a toxic compound, succinylacetone, is produced. The presence of succinylacetone as well as the build up of tyrosine leads to a variety of health complications that can be lethal if left untreated.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/tyrosinemia-type-i/overview/16951 • DATE UPDATED: 2016-06-09
Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD